D313Y Variant in Fabry Disease

BACKGROUND AND OBJECTIVES: variation in patients with FD remain debated. METHODS: -positive patients presenting abnormal laboratory findings (alpha-galactosidase-A deficiency or globotriaosylceramide accumulation). RESULTS: = 61%) of cases, respectively. DISCUSSION: -positive patients with latent or early-FD pathology, which may qualify for enzyme-replacement therapy or chaperone treatment.